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Results 1 - 10 of 15 for Pancreatic agenesis 1
  1. Permanent neonatal diabetes mellitus 
    ... an autosomal recessive pattern. PNDM Genetic Testing Registry: Pancreatic agenesis 1 Genetic Testing Registry: Permanent neonatal diabetes mellitus Isolated ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
  2. Asphyxiating thoracic dystrophy 
    ... liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people. Mutations ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  3. Maturity-onset diabetes of the young 
    ... have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout. MODY is estimated to account for 1 to 3 percent of all cases of diabetes. ...
    https://medlineplus.gov/.../maturity-onset-diabetes-of-the-young - Genetics
  4. 17q12 deletion syndrome 
    ... kidney and urinary tract abnormalities, as well as abnormalities of the pancreas that underlie diabetes. The loss of one copy ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  5. Shwachman-Diamond syndrome 
    ... gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome.Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  6. Congenital generalized lipodystrophy 
    ... is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower ... has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  7. WAGR syndrome 
    ... syndrome can include ongoing constipation, inflammation of the pancreas (pancreatitis), ... The prevalence of WAGR syndrome ranges from 1 in 500,000 to 1 million individuals. It ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  8. Thiamine-responsive megaloblastic anemia syndrome 
    ... blood vessel (cardiovascular) problems such as heart rhythm abnormalities and heart defects have ... a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  9. Wolfram syndrome 
    ... death (apoptosis). The death of cells in the pancreas, specifically cells that ... of Wolfram syndrome type 1.A certain variant in the CISD2 gene was ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  10. Familial partial lipodystrophy 
    ... type of the disorder develop muscle weakness (myopathy), abnormalities of the heart muscle ... is a rare disease, affecting an estimated 1 in 1 million people overall. Type 2 is ...
    https://medlineplus.gov/.../condition/familial-partial-lipodystrophy - Genetics
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